Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:Alpk2'

557407

Institutional Source

Beutler Lab

Gene Symbol

Alpk2

Ensembl Gene

ENSMUSG00000032845

Gene Name

alpha-kinase 2

Synonyms

Hak

MMRRC Submission

045258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65398600-65526959 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 65399348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 2077 (K2077*)

Ref Sequence

ENSEMBL: ENSMUSP00000048752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035548]

AlphaFold

Q91ZB0

Predicted Effect

probably null
Transcript: ENSMUST00000035548
AA Change: K2077*

SMART Domains

Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: K2077*

Domain	Start	End	E-Value	Type
IGc2	24	94	9.34e-4	SMART
low complexity region	196	209	N/A	INTRINSIC
low complexity region	722	734	N/A	INTRINSIC
low complexity region	1025	1037	N/A	INTRINSIC
low complexity region	1337	1353	N/A	INTRINSIC
IG	1766	1849	2.27e-2	SMART
Alpha_kinase	1879	2098	3.72e-79	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,276,400 (GRCm39)	G701D	probably damaging	Het
6030468B19Rik	T	A	11: 117,693,780 (GRCm39)	N82K	probably damaging	Het
Abca17	A	T	17: 24,554,564 (GRCm39)	V130E	possibly damaging	Het
Aox1	T	C	1: 58,322,651 (GRCm39)	F73S	probably benign	Het
Ap3b1	T	A	13: 94,668,542 (GRCm39)	C965*	probably null	Het
Arhgef10	T	A	8: 14,980,030 (GRCm39)	V90E	probably damaging	Het
Atr	T	A	9: 95,751,953 (GRCm39)	H523Q	probably benign	Het
Bicdl1	G	T	5: 115,789,916 (GRCm39)	Q511K	possibly damaging	Het
Capn15	A	T	17: 26,184,228 (GRCm39)	N150K	probably damaging	Het
Card6	A	T	15: 5,129,591 (GRCm39)	W602R	probably benign	Het
Clnk	A	T	5: 38,927,234 (GRCm39)	S82T	possibly damaging	Het
Cmah	T	C	13: 24,620,612 (GRCm39)	I282T	probably damaging	Het
Cog8	A	G	8: 107,779,131 (GRCm39)	I382T	probably benign	Het
Dhrs7c	G	T	11: 67,700,722 (GRCm39)		probably null	Het
Dhrs9	T	A	2: 69,223,502 (GRCm39)	D83E	probably damaging	Het
Dmac2l	A	T	12: 69,788,562 (GRCm39)	N154Y	probably benign	Het
Dmgdh	G	A	13: 93,852,043 (GRCm39)	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,093,569 (GRCm39)	F155L	probably damaging	Het
Drc7	A	C	8: 95,800,778 (GRCm39)	K600T	probably damaging	Het
Efhb	A	C	17: 53,707,928 (GRCm39)	I745S	probably damaging	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Fasn	T	A	11: 120,701,291 (GRCm39)	K1988*	probably null	Het
Gad2	T	C	2: 22,525,035 (GRCm39)	L273P	probably damaging	Het
Gm45861	A	T	8: 28,032,536 (GRCm39)	K887*	probably null	Het
Gm45861	A	T	8: 28,032,537 (GRCm39)	K887I	unknown	Het
Gm9195	A	G	14: 72,718,221 (GRCm39)	Y152H	probably damaging	Het
Grip1	G	A	10: 119,781,061 (GRCm39)	D237N	probably damaging	Het
Hamp	A	C	7: 30,641,961 (GRCm39)	C65G	possibly damaging	Het
Hes3	A	G	4: 152,372,581 (GRCm39)		probably benign	Het
Hgh1	T	C	15: 76,254,650 (GRCm39)	I342T	probably damaging	Het
Hlcs	T	A	16: 94,069,023 (GRCm39)	K66*	probably null	Het
Ift80	A	T	3: 68,898,277 (GRCm39)	C19*	probably null	Het
Kbtbd12	C	T	6: 88,595,650 (GRCm39)	C60Y	probably damaging	Het
Kdm4c	T	A	4: 74,263,804 (GRCm39)	V696E	probably benign	Het
Lect2	A	G	13: 56,690,803 (GRCm39)	I117T	unknown	Het
Lipn	T	A	19: 34,054,390 (GRCm39)	Y209*	probably null	Het
Lpin3	G	A	2: 160,740,627 (GRCm39)	V391I	probably benign	Het
Mocs2	A	T	13: 114,961,143 (GRCm39)	I47L	probably benign	Het
Mogs	T	A	6: 83,095,488 (GRCm39)	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,276,317 (GRCm39)	I686N	probably damaging	Het
Nbeal1	T	A	1: 60,299,793 (GRCm39)	C1376*	probably null	Het
Ninl	A	G	2: 150,791,263 (GRCm39)	Y1087H	possibly damaging	Het
Or10a3	A	G	7: 108,480,475 (GRCm39)	F113L	probably benign	Het
Or10ak14	A	G	4: 118,611,615 (GRCm39)	V42A	possibly damaging	Het
Or4k5	A	G	14: 50,385,689 (GRCm39)	L214S	probably damaging	Het
Or51b6b	A	C	7: 103,309,788 (GRCm39)	L223R	probably damaging	Het
Or6s1	A	G	14: 51,308,616 (GRCm39)	V78A	possibly damaging	Het
Or8k30	T	A	2: 86,339,369 (GRCm39)	C189S	probably damaging	Het
Pkn1	A	G	8: 84,398,363 (GRCm39)	F768S	probably damaging	Het
Plekha2	A	G	8: 25,553,957 (GRCm39)	F82L	probably damaging	Het
Ppie	T	C	4: 123,028,900 (GRCm39)	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,547,679 (GRCm39)	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,026,102 (GRCm39)	V30A	probably benign	Het
Serac1	A	T	17: 6,124,476 (GRCm39)	S16T	probably benign	Het
Sf3a3	T	C	4: 124,616,693 (GRCm39)	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,145,626 (GRCm39)	V436A	probably benign	Het
Smc3	T	A	19: 53,630,329 (GRCm39)	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,499,986 (GRCm39)	G1017E	probably damaging	Het
Tnn	T	A	1: 159,953,947 (GRCm39)	K603*	probably null	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,614,724 (GRCm39)	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,417,696 (GRCm39)	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,347,525 (GRCm39)	M238K	probably damaging	Het
Wfs1	C	T	5: 37,124,516 (GRCm39)	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612 (GRCm39)	L122Q	probably damaging	Het

Other mutations in Alpk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Alpk2	APN	18	65,438,894 (GRCm39)	missense	probably benign	0.27
IGL00478:Alpk2	APN	18	65,440,297 (GRCm39)	nonsense	probably null
IGL00898:Alpk2	APN	18	65,483,644 (GRCm39)	missense	probably benign	0.29
IGL00978:Alpk2	APN	18	65,424,605 (GRCm39)	splice site	probably benign
IGL01093:Alpk2	APN	18	65,482,400 (GRCm39)	missense	probably damaging	0.98
IGL01094:Alpk2	APN	18	65,439,673 (GRCm39)	missense	probably damaging	0.96
IGL01109:Alpk2	APN	18	65,440,211 (GRCm39)	missense	probably benign	0.09
IGL01370:Alpk2	APN	18	65,483,662 (GRCm39)	missense	possibly damaging	0.56
IGL01393:Alpk2	APN	18	65,440,779 (GRCm39)	missense	possibly damaging	0.88
IGL01629:Alpk2	APN	18	65,433,113 (GRCm39)	missense	probably damaging	1.00
IGL01872:Alpk2	APN	18	65,437,824 (GRCm39)	missense	probably benign	0.01
IGL01983:Alpk2	APN	18	65,483,753 (GRCm39)	missense	probably damaging	1.00
IGL02294:Alpk2	APN	18	65,439,146 (GRCm39)	missense	possibly damaging	0.45
IGL02333:Alpk2	APN	18	65,482,551 (GRCm39)	missense	probably damaging	0.99
IGL02493:Alpk2	APN	18	65,483,402 (GRCm39)	missense	probably benign	0.02
IGL02551:Alpk2	APN	18	65,505,822 (GRCm39)	missense	probably damaging	1.00
IGL02864:Alpk2	APN	18	65,440,670 (GRCm39)	missense	probably benign	0.12
IGL02901:Alpk2	APN	18	65,439,482 (GRCm39)	missense	probably benign
IGL02954:Alpk2	APN	18	65,439,207 (GRCm39)	missense	probably benign
IGL03257:Alpk2	APN	18	65,482,945 (GRCm39)	missense	probably damaging	0.99
IGL03389:Alpk2	APN	18	65,437,937 (GRCm39)	missense	possibly damaging	0.92
3-1:Alpk2	UTSW	18	65,437,959 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Alpk2	UTSW	18	65,439,450 (GRCm39)	missense	possibly damaging	0.84
R0098:Alpk2	UTSW	18	65,482,982 (GRCm39)	missense	probably damaging	1.00
R0098:Alpk2	UTSW	18	65,482,982 (GRCm39)	missense	probably damaging	1.00
R0414:Alpk2	UTSW	18	65,439,230 (GRCm39)	missense	probably benign	0.04
R0546:Alpk2	UTSW	18	65,439,788 (GRCm39)	missense	probably benign	0.05
R0628:Alpk2	UTSW	18	65,440,367 (GRCm39)	missense	possibly damaging	0.94
R0658:Alpk2	UTSW	18	65,482,558 (GRCm39)	missense	probably damaging	1.00
R0731:Alpk2	UTSW	18	65,438,461 (GRCm39)	missense	probably damaging	0.98
R0919:Alpk2	UTSW	18	65,440,544 (GRCm39)	missense	probably benign
R1069:Alpk2	UTSW	18	65,438,085 (GRCm39)	missense	probably benign	0.25
R1186:Alpk2	UTSW	18	65,427,412 (GRCm39)	critical splice acceptor site	probably null
R1508:Alpk2	UTSW	18	65,482,376 (GRCm39)	missense	probably damaging	1.00
R1535:Alpk2	UTSW	18	65,483,275 (GRCm39)	missense	probably benign
R1558:Alpk2	UTSW	18	65,483,301 (GRCm39)	missense	probably benign
R1600:Alpk2	UTSW	18	65,511,108 (GRCm39)	missense	probably damaging	0.96
R1664:Alpk2	UTSW	18	65,482,944 (GRCm39)	missense	probably damaging	0.96
R1672:Alpk2	UTSW	18	65,414,030 (GRCm39)	missense	probably damaging	1.00
R1829:Alpk2	UTSW	18	65,427,165 (GRCm39)	missense	possibly damaging	0.75
R2110:Alpk2	UTSW	18	65,440,151 (GRCm39)	missense	possibly damaging	0.94
R2111:Alpk2	UTSW	18	65,482,845 (GRCm39)	missense	probably benign
R2113:Alpk2	UTSW	18	65,438,754 (GRCm39)	missense	probably benign	0.31
R2126:Alpk2	UTSW	18	65,483,439 (GRCm39)	nonsense	probably null
R2198:Alpk2	UTSW	18	65,483,255 (GRCm39)	missense	probably benign	0.42
R2227:Alpk2	UTSW	18	65,511,147 (GRCm39)	missense	probably damaging	1.00
R2245:Alpk2	UTSW	18	65,438,234 (GRCm39)	missense	probably benign	0.02
R2282:Alpk2	UTSW	18	65,440,697 (GRCm39)	missense	probably benign
R2421:Alpk2	UTSW	18	65,439,687 (GRCm39)	missense	probably benign	0.00
R2512:Alpk2	UTSW	18	65,483,591 (GRCm39)	missense	probably damaging	0.96
R3105:Alpk2	UTSW	18	65,483,281 (GRCm39)	missense	possibly damaging	0.57
R3700:Alpk2	UTSW	18	65,438,222 (GRCm39)	missense	probably damaging	0.99
R4205:Alpk2	UTSW	18	65,438,282 (GRCm39)	missense	possibly damaging	0.76
R4239:Alpk2	UTSW	18	65,433,212 (GRCm39)	missense	probably damaging	1.00
R4353:Alpk2	UTSW	18	65,424,523 (GRCm39)	missense	possibly damaging	0.73
R4572:Alpk2	UTSW	18	65,414,075 (GRCm39)	missense	probably damaging	1.00
R4584:Alpk2	UTSW	18	65,440,035 (GRCm39)	missense	probably damaging	0.99
R4591:Alpk2	UTSW	18	65,438,894 (GRCm39)	missense	probably benign	0.27
R4595:Alpk2	UTSW	18	65,422,819 (GRCm39)	missense	probably damaging	1.00
R4648:Alpk2	UTSW	18	65,482,953 (GRCm39)	missense	probably damaging	0.99
R4815:Alpk2	UTSW	18	65,483,026 (GRCm39)	missense	probably damaging	1.00
R4828:Alpk2	UTSW	18	65,482,184 (GRCm39)	missense	probably benign
R4910:Alpk2	UTSW	18	65,399,357 (GRCm39)	nonsense	probably null
R5042:Alpk2	UTSW	18	65,483,579 (GRCm39)	nonsense	probably null
R5295:Alpk2	UTSW	18	65,438,109 (GRCm39)	missense	probably damaging	0.98
R5375:Alpk2	UTSW	18	65,505,809 (GRCm39)	missense	probably damaging	1.00
R5475:Alpk2	UTSW	18	65,440,083 (GRCm39)	missense	probably benign	0.16
R5480:Alpk2	UTSW	18	65,482,979 (GRCm39)	missense	probably damaging	1.00
R5486:Alpk2	UTSW	18	65,427,425 (GRCm39)	splice site	probably null
R5503:Alpk2	UTSW	18	65,439,312 (GRCm39)	missense	probably benign	0.00
R5595:Alpk2	UTSW	18	65,399,319 (GRCm39)	missense	probably damaging	1.00
R5648:Alpk2	UTSW	18	65,482,988 (GRCm39)	missense	probably damaging	0.96
R5714:Alpk2	UTSW	18	65,438,532 (GRCm39)	missense	possibly damaging	0.55
R5862:Alpk2	UTSW	18	65,440,360 (GRCm39)	missense	probably damaging	1.00
R5894:Alpk2	UTSW	18	65,414,143 (GRCm39)	missense	probably damaging	0.99
R5898:Alpk2	UTSW	18	65,440,694 (GRCm39)	missense	probably damaging	0.99
R5936:Alpk2	UTSW	18	65,483,591 (GRCm39)	missense	probably damaging	0.96
R6142:Alpk2	UTSW	18	65,438,456 (GRCm39)	missense	possibly damaging	0.94
R6291:Alpk2	UTSW	18	65,438,972 (GRCm39)	missense	possibly damaging	0.93
R6339:Alpk2	UTSW	18	65,482,877 (GRCm39)	missense	probably benign	0.00
R6407:Alpk2	UTSW	18	65,422,809 (GRCm39)	missense	probably benign	0.22
R6487:Alpk2	UTSW	18	65,399,254 (GRCm39)	missense	possibly damaging	0.62
R6667:Alpk2	UTSW	18	65,440,811 (GRCm39)	missense	probably damaging	1.00
R6786:Alpk2	UTSW	18	65,439,705 (GRCm39)	missense	probably benign
R6833:Alpk2	UTSW	18	65,439,480 (GRCm39)	missense	probably benign	0.08
R6984:Alpk2	UTSW	18	65,438,749 (GRCm39)	missense	possibly damaging	0.95
R6999:Alpk2	UTSW	18	65,437,584 (GRCm39)	missense	probably damaging	0.99
R7167:Alpk2	UTSW	18	65,440,049 (GRCm39)	missense	probably benign	0.40
R7225:Alpk2	UTSW	18	65,438,270 (GRCm39)	missense	probably benign	0.00
R7409:Alpk2	UTSW	18	65,440,023 (GRCm39)	missense	probably benign	0.01
R7533:Alpk2	UTSW	18	65,437,674 (GRCm39)	missense	probably damaging	1.00
R7576:Alpk2	UTSW	18	65,439,887 (GRCm39)	missense	possibly damaging	0.89
R7589:Alpk2	UTSW	18	65,433,144 (GRCm39)	missense	probably damaging	1.00
R7598:Alpk2	UTSW	18	65,437,637 (GRCm39)	missense	probably damaging	1.00
R7664:Alpk2	UTSW	18	65,440,073 (GRCm39)	missense	probably benign	0.03
R7711:Alpk2	UTSW	18	65,439,555 (GRCm39)	missense	probably benign
R7722:Alpk2	UTSW	18	65,483,228 (GRCm39)	missense	probably damaging	1.00
R7783:Alpk2	UTSW	18	65,439,325 (GRCm39)	nonsense	probably null
R7806:Alpk2	UTSW	18	65,482,487 (GRCm39)	missense	probably benign
R7953:Alpk2	UTSW	18	65,482,901 (GRCm39)	missense	probably damaging	1.00
R8024:Alpk2	UTSW	18	65,438,106 (GRCm39)	missense	probably benign	0.01
R8043:Alpk2	UTSW	18	65,482,901 (GRCm39)	missense	probably damaging	1.00
R8063:Alpk2	UTSW	18	65,483,417 (GRCm39)	missense	probably benign	0.15
R8171:Alpk2	UTSW	18	65,439,054 (GRCm39)	missense	probably benign	0.00
R8280:Alpk2	UTSW	18	65,440,274 (GRCm39)	missense	probably benign
R8383:Alpk2	UTSW	18	65,438,469 (GRCm39)	missense	probably benign	0.03
R8414:Alpk2	UTSW	18	65,440,542 (GRCm39)	missense	possibly damaging	0.89
R8791:Alpk2	UTSW	18	65,438,597 (GRCm39)	missense	probably benign	0.00
R8872:Alpk2	UTSW	18	65,413,977 (GRCm39)	missense	probably damaging	1.00
R9352:Alpk2	UTSW	18	65,439,783 (GRCm39)	missense	probably benign	0.01
R9449:Alpk2	UTSW	18	65,424,464 (GRCm39)	missense	probably damaging	1.00
R9525:Alpk2	UTSW	18	65,399,288 (GRCm39)	missense	probably damaging	1.00
R9564:Alpk2	UTSW	18	65,439,014 (GRCm39)	missense	probably damaging	1.00
R9710:Alpk2	UTSW	18	65,482,646 (GRCm39)	missense	probably damaging	1.00
X0023:Alpk2	UTSW	18	65,424,471 (GRCm39)	missense	probably damaging	1.00
X0027:Alpk2	UTSW	18	65,440,542 (GRCm39)	missense	possibly damaging	0.89
X0063:Alpk2	UTSW	18	65,440,434 (GRCm39)	missense	probably benign
X0064:Alpk2	UTSW	18	65,482,755 (GRCm39)	missense	probably benign	0.09
Z1176:Alpk2	UTSW	18	65,438,682 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTCAGACTCAGGCGTCTTCAC -3'
(R):5'- GCACTGTGTTTGCCTATGAC -3'

Sequencing Primer
(F):5'- CACCTGCGTGGCGTTTGTC -3'
(R):5'- GTGTTTGCCTATGACTCTTCG -3'

Posted On

2019-06-26